Zver Samo, Kokalj Vokac Nadja, Zagradisnik Boris, Erjavec Alenka, Zagorac Andreja, Zupan Irena Preloznik, Cernelc Peter
Department of Haematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Acta Haematol. 2004;111(3):168-70. doi: 10.1159/000076527.
A 77-year-old woman presented to the outpatient hematology clinic in August 2001 with leukocytosis, recurrent bacterial infections, sweating and weight loss. Bone marrow biopsy showed 80% infiltration with lymphoid cells having a prolymphocytic morphology. Flow-cytometric immunophenotype analysis showed that over 80% of the cells were positive for CD2, CD3, CD4, CD5 and CD7 antigens and negative for terminal deoxynucleotidyl transferase and CD1a antigens. T cell prolymphocytic leukemia (T-PLL) was diagnosed on the basis of these findings. The diagnosis was later confirmed by cytogenetic analysis and fluorescence in situ hibridization. The patient had the following karyotype: 46,X,der(X)t(X;3) (q28;p25) t(X;16)(p14;q12), der(3) t(X;3)(q28;p25), der(6) t (X;6) (p14;q25), (8) (q10), del(11) (q14q23), der(13) t (5;13) (q34;p11), der(13) t(13;14)(q22;q11), inv(14)(q11q32), der (16) t(X;16)(q28;q12), r(17)(p13q21), der(20) t(17;20) (q21; q13),22p+. The cytogenetic rearrangements der(6)t(X;6) (p14;q25), der(13)t(13;14)(q22;q11),t(5;13)(q34;p11), r(17) (p13q21) and t(17;20)(q21;q13) have not been described previously in the literature in patients with T-PLL.
一名77岁女性于2001年8月前往门诊血液科就诊,伴有白细胞增多、反复细菌感染、出汗及体重减轻。骨髓活检显示80%被具有前淋巴细胞形态的淋巴细胞浸润。流式细胞术免疫表型分析显示,超过80%的细胞CD2、CD3、CD4、CD5和CD7抗原呈阳性,末端脱氧核苷酸转移酶和CD1a抗原呈阴性。根据这些发现诊断为T细胞前淋巴细胞白血病(T-PLL)。该诊断后来通过细胞遗传学分析和荧光原位杂交得到证实。患者的核型如下:46,X,der(X)t(X;3) (q28;p25) t(X;16)(p14;q12), der(3) t(X;3)(q28;p25), der(6) t (X;6) (p14;q25), (8) (q10), del(11) (q14q23), der(13) t (5;13) (q34;p11), der(13) t(13;14)(q22;q11), inv(14)(q11q32), der (16) t(X;16)(q28;q12), r(17)(p13q21), der(20) t(17;20) (q21; q13),22p+。细胞遗传学重排der(6)t(X;6) (p14;q25)、der(13)t(13;14)(q22;q11)、t(5;13)(q34;p11)、r(17) (p13q21)和t(17;20)(q